Editorial: Life With a Rare Illness – Cystinuria Awareness Day is June 24

A few of you out there that pay attention to such things may on occasion notice an edition of The Vedette with few to no stories bearing my byline. This isn’t due to my taking something I’m told is called a “vacation” (what is that, anyway?), but is usually because I’ve had to take a few days and pass a kidney stone. Over the past 18 months, I’ve had five surgeries to remove stones, and in that time have experienced almost a dozen episodes not requiring surgery but still requiring a trip to the emergency room — or at the very least, strong pain medications.

My family and I are among those in an exclusive club we never asked to join: I have cystinuria, a rare genetic illness that causes me to form kidney stones, among other issues.

On June 24, myself and a few thousand people in this country will have an opportunity to publicize this uncommon, often misunderstood illness that quite often has turned our lives completely upside down, in observing Cystinuria Awareness Day.

Cystinuria results from a mutation in one of two genes, hampering metabolic absorption and transport of four amino acids (cystine, ornithine, lysine and arginine). Of these, it’s the cystine that crystallizes and clumps to form stones that can be the same density and hardness as bone. Cystinurics can also be deficient in the other involved amino acids, which are important components of the immune system, nervous system, metabolic processes, and skin and connective tissues.

Cystinuria affects fewer than 35,000 people in the United States, with cystine kidney stones being less than one percent of kidney stone cases. It’s not unusual for us to have to explain our condition to medical staff. Since most kidney stones are made of calcium, and the different stones form via different processes, steps taken to prevent one type can actually encourage formation of another.

With so few persons having the condition, little research has been done on the effects to individuals; symptoms can vary widely among cystinurics, even within the same family. Treatment is highly variable as well, with therapies and medications being established largely by trial and error.

Most cystinurics take at least two basic steps to discourage stone formation - 1. drink enough water to flood a small country in Europe, and 2. take steps via medication, supplements or diet to keep the body as alkaline as possible without forming calcium stones. Other steps some take include decreasing salt intake, decreasing protein intake and chelation therapy via medication. The medications all have their own side effects however, and some cystinurics have such bad reactions to one or all medications that they cannot handle them.

Other issues with the medications include cost: the “orphan drug” Thiola, so-called because it only treats cystinuria, saw a price increase of $35 per pill when its patent was purchased by a company controlled by Martin Shkreli. Since Thiola is used in a chelation therapy, multiple pills are taken per day. If not covered by insurance — if we’re lucky enough to even get or afford insurance — the cost of medication can easily exceed $100,000 a year.

As the stones are so dense and hard, they often do not show up on X-rays or even ultrasounds, and sometimes are hard to spot on CT scans and MRIs. (Cystinurics are also often at higher risk of cancer due to the numerous CT scans they have to endure.) It takes a trained eye to spot a cystine stone, but it’s not uncommon for us to have no stones found on scans and then pass one the next day. The density also makes the stones specifically resistant to sonic lithotripsy, and if stones cannot be passed, surgery is required.

To someone not knowing better, I usually look only as unhealthy as the average American. However, the recurrent stones and frequent surgeries have left me in a near-constant low grade pain, and trying to find a drug and therapy regimen that works for me has been long and exhausting. Side effects from the medications often upset my system, and have caused me to gain or lose in appetite (and weight) at various times. I get fatigued quickly, and often have trouble concentrating — especially after taking pain medications.

I write this not to draw attention or pity to myself, but to bring attention to cystinuria and other rare or “invisible” illnesses. From the miracles of modern medicine, there are plenty of people alive today with chronic medical conditions that a short time ago would have been un-survivable, myself included. But just because the conditions are now survivable doesn’t mean we don’t face challenges every day in addition to those that life already throws at everyone.

So, on June 24, take a minute to think about my fellow cystinurics — or “stoners” as some call themselves — and be mindful of those around who may be dealing with a hidden illness nobody understands.

Because, someday, it very well could be you.